Structural variation in the 3D genome
نویسندگان
چکیده
منابع مشابه
Structural variation in the human genome.
Genomic structural variation is generally defined as deletions, insertions, duplications, inversions, translocations or copy number variation (CNV) in large DNA segments (>1 kb). The structural variation in an individual genome includes thousands of discrete regions, spans millions of base pairs, and encompasses numerous entire genes and their regulatory regions. This results in missing or chan...
متن کاملStructural variation of the human genome.
There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rear...
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Rationale. The last three years have brought considerable progress in understanding the nature and patterns of single nucleotide polymorphism within the human species. Of the estimated 10-15 million common SNPs, a large fraction have already been discovered and 3.8 million SNPs converted to genotyping assays, providing the community with a framework to investigate associations between common SN...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2018
ISSN: 1471-0056,1471-0064
DOI: 10.1038/s41576-018-0007-0